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  3. B9D1
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Familial Neural Tube Defects

Gene: B9D1

Red List (low evidence)
B9D1 (B9 domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000108641
EnsemblGeneIds (GRCh37): ENSG00000108641
OMIM: 614144, Gene2Phenotype
B9D1 is in 15 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel syndrome 9, OMIM:614209
  • Meckel syndrome 9, MONDO:0013630
  • Joubert syndrome 27, OMIM:617120
  • Joubert syndrome 27, MONDO:0014927
OMIM
614144
Clinvar variants
Variants in B9D1
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Jan 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: B9D1 were changed from Meckel Syndrome to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927

25 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25th Oct 2016: This panel was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. Ready to promote to Version 1.

25 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Sep 2016, Gel status: 3

Added New Source

Olivia Niblock (Genomics England Curator)

B9D1 was added to Familial Neural Tube Defectspanel. Source: UKGTN

22 Sep 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Olivia Niblock (Genomics England Curator)

B9D1 was added to Familial Neural Tube Defectspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene B9D1 was set to BIALLELIC, autosomal or pseudoautosomal

22 Sep 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

B9D1 was created by oniblock

22 Sep 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

B9D1 was added to Familial Neural Tube Defectspanel. Sources: Radboud University Medical Center, Nijmegen